Evidence map›Paper›PMID 41426592›Full record

ArticleFrontiers in medicine2025

Case Report: A case of Fraser syndrome 2 in a Chinese fetus caused by novel compound heterozygous variants in the

Weidong Wei, Yinan Fan, Jiaqi Song, Yedan Lou, Tao Zhang, Hua Yuan, Jieyuan Jin, Sinan Zhang, Xin Jin

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PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Weidong Wei *Shaoxing Maternity and Child Health Care Hospital, Shaoxing, Zhejiang, China.
Yinan Fan *Shaoxing University, Shaoxing, Zhejiang, China.
Jiaqi SongShaoxing University, Shaoxing, Zhejiang, China.
Yedan LouShaoxing University, Shaoxing, Zhejiang, China.
Tao ZhangShaoxing Maternity and Child Health Care Hospital, Shaoxing, Zhejiang, China.
Hua YuanShaoxing Maternity and Child Health Care Hospital, Shaoxing, Zhejiang, China.
Jieyuan JinShaoxing University, Shaoxing, Zhejiang, China.
Sinan ZhangDepartment of Respiratory and Critical Care Medicine, Shanghai Changhai Hospital, The First Affiliated Hospital of Naval Military Medical University, Shanghai, China.
Xin JinShaoxing University, Shaoxing, Zhejiang, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Fraser syndrome (FS) is an autosomal recessive inherited malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tracts. Variants in the FRAS1-related extracellular matrix 2 (FREM2) gene are the major genetic cause. However, clinical diagnosis remains challenging due to phenotypic heterogeneity. Methods: A 24-week pregnant woman came to our hospital for genetic diagnosis. Ultrasound examination showed bilateral renal agenesis or dysplasia, absence of the bladder, and almost oligohydramnios. Trio whole-exome sequencing (Trio-WES) identified two novel compound heterozygous variants in the fetal FREM2 gene: a maternal, frameshift variant, c.5908_5909del, p.Leu1970ValfsTer33, and a paternal, nonsense variant, c.7881C>G,p.Tyr2627Ter. Conclusion: We report a rare case of Fraser syndrome 2 caused by compound heterozygous mutations in the FREM2 gene. Our findings expanded the

Indexed as

compound heterozygousFraser syndrome 2FREM2prenatal diagnosisTrio-WES

Identifiers

PMID41426592
PMCPMC12711493

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